Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

7 matching diseasesClear search ×

Maple syrup urine disease

BCKD deficiency · BCKDH deficiency

ORPHA:511

Malignant atrophic papulosis

MAP · Cutaneo-muco-intestinal syndrome

ORPHA:679

Epithelial basement membrane dystrophy

Anterior basement membrane dystrophy · Cogan microcystic epithelial dystrophy

ORPHA:98956

Classic maple syrup urine disease

Classic BCKD deficiency · Classic MSUD

ORPHA:268145

Intermediate maple syrup urine disease

Intermediate BCKD deficiency · Intermediate MSUD

ORPHA:268162

Intermittent maple syrup urine disease

Intermittent BCKD deficiency · Intermittent MSUD

ORPHA:268173

Thiamine-responsive maple syrup urine disease

Thiamine-responsive BCKD deficiency · Thiamine-responsive MSUD

ORPHA:268184